RGD Reference Report - Association analyses of GIP and GIPR polymorphisms with traits of the metabolic syndrome. - Rat Genome Database

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Association analyses of GIP and GIPR polymorphisms with traits of the metabolic syndrome.

Authors: Nitz, I  Fisher, E  Weikert, C  Burwinkel, B  Li, Y  Mohlig, M  Boeing, H  Schreiber, S  Schrezenmeir, J  Doring, F 
Citation: Nitz I, etal., Mol Nutr Food Res. 2007 Aug;51(8):1046-52.
RGD ID: 2312618
Pubmed: PMID:17624916   (View Abstract at PubMed)
DOI: DOI:10.1002/mnfr.200700048   (Journal Full-text)

Glucose-dependent insulinotropic polypeptide (GIP) stimulates insulin release via interaction with its pancreatic receptor (GIP receptor (GIPR)). GIP also acts as vasoactive protein. To investigate whether variations in GIP and GIPR genes are associated with risk factors of the metabolic syndrome we sequenced gene regions and identified two coding SNPs (GIP Ser103Gly, GIPR Glu354Gln) and one splice site SNP (GIP rs2291726) in 47 subjects. Interestingly, in silico analyses revealed that splice site SNP rs2291726 results in a truncated protein and classified GIPR variant Glu354Gln as a functional amino acid change. Association analyses were performed in a case-cohort study of incident cardiovascular disease (CVD) nested in the EPIC-Potsdam cohort. No significant associations between incident CVD and GIP Ser103Gly and rs2291726 were found. For GIPR Glu354Gln, we obtained a nominal association of heterozygous minor allele carrier with CVD in a codominant model adjusted for BMI, sex, and age (OR: 0.67, CI: 0.50-0.91, p = 0.01) or additional covariates of CVD (OR: 0.72, CI: 0.52-0.97, p = 0.03). In conclusion, we identified a common splice site mutation (rs2291726) of the GIP gene which results in a truncated protein and provide preliminary evidence for an association of the heterozygous GIPR Glu354Gln genotype with CVD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cardiovascular system disease  IAGP 2312618DNA:missense mutation:p.E354Q (human)RGD 
cardiovascular system disease  ISOGIPR (Homo sapiens)2312618; 2312618DNA:missense mutation:p.E354Q (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Gipr  (gastric inhibitory polypeptide receptor)

Genes (Mus musculus)
Gipr  (gastric inhibitory polypeptide receptor)

Genes (Homo sapiens)
GIPR  (gastric inhibitory polypeptide receptor)


Additional Information